Successful liver transplantation for homozygous protein <scp>C</scp> deficiency with a type II mutation using a heterozygous living related donor

Boucher, Alexander A.; Luchtman‐Jones, Lori; Nathan, Jaimie D.; Palumbo, Joseph S.

doi:10.1002/ajh.24998

Cited by 7 publications

(3 citation statements)

References 26 publications

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“…Liver transplant, which is potentially curative in SCPCD, is a reported alternative to avoid long‐term PC replacement 31–33 …”

Section: Therapeutic Options For Long‐term Managementmentioning

confidence: 99%

“…Liver transplant, which is potentially curative in SCPCD, is a reported alternative to avoid long-term PC replacement. [31][32][33] Given the long-term risks, the decision to carry out this procedure requires careful discussion on the risks and benefits with the family. Combined liver and kidney transplant has been performed in patients with renal failure following renal vein thrombosis.…”

Section: Transplantmentioning

confidence: 99%

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Diagnosis and management of severe congenital protein C deficiency (SCPCD): Communication from the SSC of the ISTH

Minford

Brandão

Othman

et al. 2022

Journal of Thrombosis and Haemostasis

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Severe congenital protein C deficiency (SCPCD) is rare and there is currently substantial variation in the management of this condition. A joint project by three Scientific and Standardization Committees of the ISTH: Plasma Coagulation Inhibitors, Pediatric/ Neonatal Thrombosis and Hemostasis, and Women's Health Issues in Thrombosis and Hemostasis, was developed to review the current evidence and help guide on diagnosis and management of SCPCD. We provide a summary of the clinical presentations, differential diagnoses, appropriate investigations to confirm the diagnosis, approaches for management of the acute situation, and options for long-term management including subsequent pregnancies. We finally provide a set of recommendations to help in this regard.

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“…Liver transplant, which is potentially curative in SCPCD, is a reported alternative to avoid long‐term PC replacement 31–33 …”

Section: Therapeutic Options For Long‐term Managementmentioning

confidence: 99%

Section: Transplantmentioning

confidence: 99%

Diagnosis and management of severe congenital protein C deficiency (SCPCD): Communication from the SSC of the ISTH

Minford

Brandão

Othman

et al. 2022

Journal of Thrombosis and Haemostasis

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“…18 Protein C, a vitamin K-dependent serine protease produced by the liver, plays a crucial role in natural anticoagulation. 19 When it binds to the thrombin-thrombomodulin complex on the vascular endothelium, protein C is converted into activated protein C (APC). In collaboration with protein S, APC deactivates factors Va and VIIIa, ultimately resulting in decreased thrombin and fibrin generation.…”

Section: Discussionmentioning

confidence: 99%

Digenic Inheritance of PROC and SERPINC1 Mutations Contributes to Multiple Sites Venous Thrombosis

Li,

Zhu,

et al. 2024

Hamostaseologie

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Venous thromboembolism (VTE) represents a worldwide health challenge, impacting millions of people each year. The genesis of venous thrombosis is influenced in part by genetic components. Hereditary thrombosis is described as a genetically determined susceptibility to VTE. In the present study, a male patient was referred to our department presenting with multiple venous thrombosis events in different locations. Given a lack of identifiable risk factors, we aimed to investigate the possible genetic factor underlying venous thrombosis. Whole-exome sequencing was employed to examine genes linked to inherited thrombophilia in the proband. Putative variants were subsequently confirmed through Sanger sequencing within the family. The proband was identified as carrying two genetic mutations. One is the novel c.400G > C (p.E134Q) mutation affecting the final nucleotide of exon 5 in the PROC gene, potentially impacting splicing. The other is a previously reported heterozygous nonsense variant c.1016G > A (p.W339X) in the SERPINC1 gene. The proband inherited the former from her mother and the latter from her father. The presence of digenic inheritance in the patient reflects the complex phenotype of venous thrombosis and demonstrates the significance of an unbiased approach to detect pathogenic variants, especially in patients with a high risk of hereditary thrombosis.

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Liver transplantation for congenital protein C deficiency with initial poor graft function: a case report with literature review

et al. 2021

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Successful liver transplantation for homozygous protein C deficiency with a type II mutation using a heterozygous living related donor

Cited by 7 publications

References 26 publications

Diagnosis and management of severe congenital protein C deficiency (SCPCD): Communication from the SSC of the ISTH

Diagnosis and management of severe congenital protein C deficiency (SCPCD): Communication from the SSC of the ISTH

Digenic Inheritance of PROC and SERPINC1 Mutations Contributes to Multiple Sites Venous Thrombosis

Liver transplantation for congenital protein C deficiency with initial poor graft function: a case report with literature review

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